Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

Wechsler Intelligence Scale for Children

Miles-Mason, E. (2018) · Sage eBooks · doi:10.4135/9781483392271.n537 · Cited by 4,133

The assessment of aphasia and related disorders

Goodglass, H., & Kaplan, E. (1972) · Medical Entomology and Zoology · Cited by 3,258

Claudin-1 and -2: Novel Integral Membrane Proteins Localizing at Tight Junctions with No Sequence Similarity to Occludin

Furuse, M., Fujita, K., Hiiragi, T., Fujimoto, K., & Tsukita, S. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.141.7.1539 · Cited by 2,100

WAIS-R manual : Wechsler adult intelligence scale-revised

Wechsler, D. (1981) · Medical Entomology and Zoology · Cited by 1,559

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

Morita, K., Furuse, M., Fujimoto, K., & Tsukita, S. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.2.511 · Cited by 1,126

Assessment of children's intelligence and special abilities

Sattler, J. M. (1982) · Medical Entomology and Zoology · Cited by 786

Down syndrome phenotypes: the consequences of chromosomal imbalance.

Korenberg, J. R., Chen, X. N., Schipper, R. D., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N. J., Däumer, C., Dignan, P. S. J., & Distèche, C. M. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.11.4997 · Cited by 784

I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses

Bellugi, U., Lichtenberger, L., Jones, W., Lai, Z. C., & George, M. S. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900561959 · Cited by 706

Natural history of Williams syndrome: Physical characteristics

Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., & Blackburn, B. L. (1988) · The Journal of Pediatrics · doi:10.1016/s0022-3476(88)80272-5 · Cited by 670

Neuropsychological Assessment of Neuropsychiatric Disorders

(1996) · doi:10.1093/oso/9780195090734.001.0001 · Cited by 607

A genome-wide linkage and association scan reveals novel loci for autism

The Gene Discovery Project of Johns Hopkins & the Autism Consortium, Weiss, L. A., & Arking, D. E. (2009) · Nature · doi:10.1038/nature08490 · Cited by 619

Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

Meyer-Lindenberg, A., Mervis, C. B., & Faith Berman, K. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1906 · Cited by 411

Williams syndrome

Kozel, B. A., Barak, B., Kim, C. A., Mervis, C. Β., Osborne, L. R., Porter, M. A., & Pober, B. R. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-021-00276-z · Cited by 267

Multisystem study of 20 older adults with Williams syndrome

Cherniske, E. M., Carpenter, T. O., Klaiman, C., Young, E., Bregman, J. D., Insogna, K. L., Schultz, R. T., & Pober, B. R. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30400 · Cited by 246

The genomic basis of the Williams – Beuren syndrome

Schubert, C. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8401-y · Cited by 245

Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development

Osborne, L. R., & Mervis, C. Β. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s146239940700035x · Cited by 186

Symmetry of Cortical Folding Abnormalities in Williams Syndrome Revealed by Surface-Based Analyses

Essen, D. C. V., Dierker, D. L., Snyder, A. Z., Raichle, M. E., Reiss, A. L., & Korenberg, J. R. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.4154-05.2006 · Cited by 183

Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

Merla, G., Howald, C., Hor, C. N., Lyle, R., Wyss, C., Zabot, M. T., Antonarakis, S. E., & Reymond, A. (2006) · The American Journal of Human Genetics · doi:10.1086/506371 · Cited by 179

Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior

Järvinen-Pasley, A., Bellugi, U., Reilly, J., MILLS, D. L., Galaburda, A., Reiss, A. L., & Korenberg, J. R. (2008) · Development and Psychopathology · doi:10.1017/s0954579408000011 · Cited by 177

Copy number variants at Williams–Beuren syndrome 7q11.23 region

Merla, G., Brunetti‐Pierri, N., Micale, L., & Fusco, C. (2010) · Human Genetics · doi:10.1007/s00439-010-0827-2 · Cited by 159

Hyperacusis in Williams syndrome

Gothelf, D., Farber, N., Raveh, E., Apter, A., & Attias, J. (2006) · Neurology · doi:10.1212/01.wnl.0000196643.35395.5f · Cited by 141

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Adamo, A., Atashpaz, S., Germain, P.-L., Zanella, M., D'Agostino, G., Albertin, V., Chenoweth, J., Micale, L., Fusco, C., Unger, C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3169 · Cited by 129

Oxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behavior

Dai, L., Carter, C. S., Ying, J., Bellugi, U., Pournajafi-Nazarloo, H., & Korenberg, J. R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0038513 · Cited by 119

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

Ashe, A., Morgan, D. K., Whitelaw, N. C., Bruxner, T. J., Vickaryous, N. K., Cox, L. L., Butterfield, N. C., Wicking, C., Blewitt, M. E., Wilkins, S. J., et al. (2008) · Genome Biology · doi:10.1186/gb-2008-9-12-r182 · Cited by 117

Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

Campo, M. D., Antonell, A., Magano, L. F., Muñoz, F. J., Flores, R., Bayés, M., & Jurado, L. A. P. (2006) · The American Journal of Human Genetics · doi:10.1086/501073 · Cited by 117

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., González, P. J., Manghi, E. R., Bondy, P., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.044537 · Cited by 113

Action of TFII-I Outside the Nucleus as an Inhibitor of Agonist-Induced Calcium Entry

Caraveo, G., van Rossum, D. B., Patterson, R. L., Snyder, S. H., & Desiderio, S. V. (2006) · Science · doi:10.1126/science.1127815 · Cited by 114

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Ferrero, G. B., Howald, C., Micale, L., Biamino, E., Augello, B., Fusco, C., Turturo, M. G., Forzano, S., Reymond, A., & Merla, G. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.108 · Cited by 110

Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1‐targeted mice

Young, E. J., Lipina, T. V., Tam, E., Mandel, A., Clapcote, S. J., Bechard, A. R., Chambers, J., Mount, H. T. J., Fletcher, P. J., Roder, J., et al. (2007) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00343.x · Cited by 109

Transcriptional control of cognitive development

Hong, E. J., West, A. E., & Greenberg, M. E. (2005) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2005.01.002 · Cited by 110

Is it Williams syndrome?GTF2IRD1implicated in visual–spatial construction andGTF2Iin sociability revealed by high resolution arrays

Dai, L., Bellugi, U., Chen, X. ‐., Pulst‐Korenberg, A. M., Järvinen‐Pasley, A., Tirosh‐Wagner, T., Eis, P. S., Graham, J. M., Mills, D. L., Searcy, Y. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32652 · Cited by 107

Autism, language delay and mental retardation in a patient with 7q11 duplication

Depienne, C., Héron, D., Betancur, C., Benyahia, B., Trouillard, O., Bouteiller, D., Verloès, A., Leguern, É., Leboyer, M., & Brice, A. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.047092 · Cited by 94

Social Interaction Behaviors Discriminate Young Children With Autism and Williams Syndrome

Lincoln, A. J., Searcy, Y. M., JONES, W., & Lord, C. (2007) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e31802b9522 · Cited by 94

Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10years later

Roy, A. L. (2011) · Gene · doi:10.1016/j.gene.2011.10.030 · Cited by 90

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

van Hagen, J. M., van der Geest, J. N., van der Giessen, R. S., Haselen, G. C. L.-V., Eussen, H. J., Gille, J. J. P., Govaerts, L. C. P., Wouters, C. H., de Coo, I. F. M., Hoogenraad, C. C., et al. (2006) · Neurobiology of Disease · doi:10.1016/j.nbd.2006.12.009 · Cited by 84

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways

Lalli, M. A., Jang, J., Park, J.-H. C., Wang, Y., Guzman, E., Zhou, H., Audouard, M., Bridges, D. C., Tovar, K. R., Papuc, S. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw010 · Cited by 79

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Fusco, C., Micale, L., Augello, B., Pellico, M. T., Menghini, D., Alfieri, P., Digilio, M. C., Mandriani, B., Carella, M., Palumbo, O., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.101 · Cited by 78

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

Merla, G., Howald, C., Antonarakis, S. E., & Reymond, A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh163 · Cited by 77

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

Howald, C., Merla, G., Digilio, M. C., Amenta, S., Lyle, R., Deutsch, S., Choudhury, U., Bottani, A., Antonarakis, S. E., Fryssira, H., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.034009 · Cited by 72

Transcriptome analysis reveals sexual disparities in gene expression in rat brain microvessels

Chandra, P. K., Čikić, S., Baddoo, M., Rutkai, I., Guidry, J. J., Flemington, E. K., Katakam, P. V. G., & Busija, D. W. (2021) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x21999553 · Cited by 70

Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

Ferrero, G. B., Biamino, E., Sorasio, L., Banaudi, E., Peruzzi, L., Forzano, S., di Cantogno, L. V., & Silengo, M. (2007) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2007.05.005 · Cited by 70

Williams syndrome: Pediatric, neurologic, and cognitive development

Carrasco, X., Castillo, S., Aravena, T., Paula Rothhammer, A., & Aboitiz, F. (2005) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2004.09.013 · Cited by 69

Civilian and Military Genetics: Nondiscrimination Policy in a Post-GINA World

Baruch, S., & Hudson, K. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.003 · Cited by 67

Relative sparing of primary auditory cortex in Williams Syndrome

Holinger, D. P., Bellugi, U., Mills, D. L., Korenberg, J. R., Reiss, A. L., Sherman, G. F., & Galaburda, A. M. (2005) · Brain Research · doi:10.1016/j.brainres.2004.11.038 · Cited by 65

Anomalous sylvian fissure morphology in Williams syndrome

Eckert, M. A., Galaburda, A. M., Karchemskiy, A., Liang, A., Thompson, P. M., Dutton, R. A., Lee, A. D., Bellugi, U., Korenberg, J. R., Mills, D. L., et al. (2006) · NeuroImage · doi:10.1016/j.neuroimage.2006.05.062 · Cited by 62

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Micale, L., Fusco, C., Augello, B., Napolitano, L. M. R., Dermitzakis, E. T., Meroni, G., Merla, G., & Reymond, A. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.68 · Cited by 63

Pathophysiology of TFII-I: Old Guard Wearing New Hats

Roy, A. L. (2017) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2017.04.002 · Cited by 54

Signal-induced functions of the transcription factor TFII-I

Roy, A. L. (2007) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/j.bbaexp.2007.10.002 · Cited by 53

Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome

Walter, E., Mazaika, P. K., & Reiss, A. L. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.04.033 · Cited by 55

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

Palmer, S. J., Tay, E. S. E., Santucci, N., Cuc Bach, T. T., Hook, J., Lemckert, F. A., Jamieson, R. V., Gunnning, P. W., & Hardeman, E. C. (2007) · Gene Expression Patterns · doi:10.1016/j.modgep.2006.11.008 · Cited by 49

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

Tordjman, S., Anderson, G. M., Botbol, M., Toutain, A., Sarda, P., Carlier, M., Saugier-Véber, P., Baumann, C., Cohen, D., Lagneaux, C., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030778 · Cited by 55

The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

Vandeweyer, G., der Aa, N. V., Reyniers, E., & Kooy, R. F. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.020 · Cited by 47

Identification of the TFII-I family target genes in the vertebrate genome

Chimge, N., Makeyev, A. V., Ruddle, F. H., & Bayarsaihan, D. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0803051105 · Cited by 46

Affective and Psychiatric Disorders in Celiac Disease

Addolorato, G., Leggio, L., D’Angelo, C., Mirijello, A., Ferrulli, A., Cardone, S., Vonghia, L., Abenavoli, L., Leso, V., Nesci, A., et al. (2008) · Digestive Diseases · doi:10.1159/000116772 · Cited by 47

Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

Castelo-Branco, M. S., Mendes, M., Sebastião, A. R., Reis, A., Soares, M., Saraiva, J., Bernardes, R., Flores, R., Jurado, L. A. P., & Silva, E. D. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32556 · Cited by 45

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Broadbent, H. J., Farran, E. K., Chin, E., Metcalfe, K., Tassabehji, M., Turnpenny, P. D., Sansbury, F. H., Meaburn, E. L., & Karmiloff‐Smith, A. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-18 · Cited by 44

Comparison of TFII‐I gene family members deleted in Williams‐Beuren syndrome

Hinsley, T. A., Cunliffe, P., Tipney, H., Brass, A., & Tassabehji, M. (2004) · Protein Science · doi:10.1110/ps.04747604 · Cited by 43

Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex

Gao, M. C., Bellugi, U., Dai, L., Mills, D. L., Sobel, E. M., Lange, K., & Korenberg, J. R. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010292 · Cited by 42

Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

Hor, C. N., Csárdi, G., Zabot, M.-T., Fusco, C., Bergmann, S., Merla, G., & Reymond, A. (2011) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001054 · Cited by 40

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

Tordjman, S., Anderson, G. M., Cohen, D., Kermarrec, S., Carlier, M., Touitou, Y., Saugier-Véber, P., Lagneaux, C., Chevreuil, C., & Verloès, A. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-29 · Cited by 38

Essential role of the N-terminal region of TFII-I in viability and behavior

Lucena, J., Pezzi, S., Aso, E., Valero, M. C., Carreiro, C., Dubus, P. R., Sampaio, A., Puimedon, M. S., Barthelemy, I., Zindel, M. Y., et al. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-61 · Cited by 37

Mutation of Gtf2ird1 from the Williams–Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations

Howard, M. L., Palmer, S. J., Taylor, K. M., Arthurson, G. J., Spitzer, M. W., Du, X., Pang, T. Y., Renoir, T., Hardeman, E. C., & Hannan, A. J. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.010 · Cited by 34

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome

Schneider, T., Skitt, Z., Liu, Y., Deacon, R. M. J., Jonathan Flint, C., Karmiloff‐Smith, A., Rawlins, J. N. P., & Tassabehji, M. (2012) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.05.014 · Cited by 35

GTF2IRD2 is located in the Williams–Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix–loop–helix repeats

Makeyev, A. V., Erdenechimeg, L., Mungunsukh, O., Roth, J. J., Enkhmandakh, B., Ruddle, F. H., & Bayarsaihan, D. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404150101 · Cited by 32

A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes

Zarchi, O., Diamond, A. D., Weinberger, R., Abbott, D., Carmel, M., Frisch, A., Michaelovsky, E., Gruber, R., Green, T., Weizman, A., et al. (2013) · European Psychiatry · doi:10.1016/j.eurpsy.2013.07.001 · Cited by 32

Negative Autoregulation of GTF2IRD1 in Williams-Beuren Syndrome via a Novel DNA Binding Mechanism

Palmer, S. J., Santucci, N., Widagdo, J., Bontempo, S. J., Taylor, K. M., Tay, E. S. E., Hook, J., Lemckert, F. A., Gunning, P. W., & Hardeman, E. C. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.086660 · Cited by 30

Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models

Kopp, N., McCullough, K. B., Maloney, S. E., & Dougherty, J. D. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz176 · Cited by 29

Mapping Genetically Controlled Neural Circuits of Social Behavior and Visuo-Motor Integration by a Preliminary Examination of Atypical Deletions with Williams Syndrome

Hoeft, F., Dai, L., Haas, B. W., Sheau, K. E., Mimura, M., Mills, D. L., Galaburda, A. M., Bellugi, U., Korenberg, J. R., & Reiss, A. L. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104088 · Cited by 28

Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice

O’Leary, J., & Osborne, L. R. (2011) · PLoS ONE · doi:10.1371/journal.pone.0023868 · Cited by 27

William's syndrome: gene expression is related to parental origin and regional coordinate control

Collette, J. C., Chen, X., Mills, D. L., Galaburda, A. M., Reiss, A. L., Bellugi, U., & Korenberg, J. R. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.5 · Cited by 27

Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCR

Schubert, C., & Laccone, F. A. (2006) · International Journal of Molecular Medicine · doi:10.3892/ijmm.18.5.799 · Cited by 26

Genetic Mapping of Brain Plasticity Across Development in Williams Syndrome: ERP Markers of Face and Language Processing

Mills, D. L., Dai, L., Fishman, I., Yam, A., Appelbaum, L. G., George, M. S., Galaburda, A. M., Bellugi, U., & Korenberg, J. R. (2013) · Developmental Neuropsychology · doi:10.1080/87565641.2013.825617 · Cited by 24

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

Huryn, L. A., Flaherty, T., Nolen, R., Prasov, L., Zein, W. M., Cukras, C. A., Osgood, S., Raja, N., Levin, M. D., Vitale, S., et al. (2022) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2022-321103 · Cited by 23

The contribution of GTF2I haploinsufficiency to Williams syndrome

Chailangkarn, T., Noree, C., & Muotri, A. R. (2018) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2017.12.005 · Cited by 22

Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome

Ghaffari, M., Birgani, M. T., Kariminejad, R., & Saberi, A. (2018) · Annals of Human Genetics · doi:10.1111/ahg.12278 · Cited by 18

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon

Tekendo‐Ngongang, C., Dahoun, S. P., Nguefack, S., Gimelli, S., Bena, F. S., & Wonkam, A. (2014) · Molecular Syndromology · doi:10.1159/000369421 · Cited by 18

Williams-Beuren Syndrome-associated Transcription Factor TFII-I Regulates Osteogenic Marker Genes

Lazebnik, M. B., Tussié-Luna, M. I., Hinds, P. W., & Roy, A. L. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.c109.063115 · Cited by 18

Determination and Functional Analysis of the Consensus Binding Site for TFII-I Family Member BEN, Implicated in Williams-Beuren Syndrome*

Lazebnik, M. B., Tussié-Luna, M. I., & Roy, A. L. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.c800049200 · Cited by 17

Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice

Davenport, C. M., Teubner, B. J. W., Han, S. B., Patton, M. H., Eom, T.-Y., Garić, D., Lansdell, B., Shirinifard, A., Chang, T., Klein, J. D., et al. (2022) · Cell · doi:10.1016/j.cell.2022.08.022 · Cited by 17

Medical overview and genetics of Williams-Beuren syndrome

Smoot, L. B., Zhang, H., Klaiman, C., Schultz, R. T., & Pober, B. R. (2005) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2005.04.010 · Cited by 17

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif ‘GUCE’

Thompson, P. D., Webb, M., Beckett, W., Hinsley, T. A., Jowitt, T. A., Sharrocks, A. D., & Tassabehji, M. (2007) · FEBS Letters · doi:10.1016/j.febslet.2007.02.040 · Cited by 17

Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review

Serrano‐Juárez, C. A., Prieto‐Corona, B., Rodríguez-Camacho, M. A., Sandoval-Lira, L., Villalva-Sánchez, Á. F., Yáñez-Téllez, M. G., & López, M. F. R. (2022) · Neuropsychology Review · doi:10.1007/s11065-022-09571-2 · Cited by 16

A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome

Gagliardi, C., Arrigoni, F., Nordio, A., Luca, A. D., Peruzzo, D., Decio, A., Leemans, A., & Borgatti, R. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00721 · Cited by 17

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

Alesi, V., Loddo, S., Orlando, V., Genovese, S., Tommaso, S. D., Liambo, M. T., Pompili, D., Ferretti, D., Calacci, C., Catino, G., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61937 · Cited by 16

Comparing Two Diagnostic Laboratory Tests for Williams Syndrome: Fluorescent In Situ Hybridization versus Multiplex Ligation-Dependent Probe Amplification

van Hagen, J. M., Eussen, H. J., van Schooten, R., van der Geest, J. N., Haselen, G. C. L.-V., Wouters, C. H., Zeeuw, C. I. D., & Gille, J. J. P. (2007) · Genetic Testing · doi:10.1089/gte.2007.0007 · Cited by 15

Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

Serrano‐Juárez, C. A., Venegas-Vega, C. A., Yáñez-Téllez, M. G., Rodríguez-Camacho, M. A., Silva‐Pereyra, J., Salgado‐Ceballos, H., & Prieto‐Corona, B. (2018) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617718000711 · Cited by 15

A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome

Delgado, L. M., Gutierrez, M., Augello, B., Fusco, C., Micale, L., Merla, G., & Pastene, E. A. (2013) · Molecular Syndromology · doi:10.1159/000347167 · Cited by 14

Atypical Deletion in Williams–Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

Honjo, R. S., Dutra, R. L., Nunes, M. M., Gomy, I., Kulikowski, L. D., Jehee, F. S., & Kim, C. A. (2012) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2012.07.001 · Cited by 13

Transcription Factor TFII-I Conducts a Cytoplasmic Orchestra

Roy, A. L. (2006) · ACS Chemical Biology · doi:10.1021/cb6004323 · Cited by 13

Williams-Beuren Syndrome

Scherer, S. W., & Osborne, L. R. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-039-3_15 · Cited by 12

Autism, language delay and mental retardation in a patient with 7q11 duplication

Depienne, C., Héron, D., Betancur, C., Benyahia, B., Trouillard, O., Bouteiller, D., Verloès, A., Leguern, É., Leboyer, M., & Brice, A. (2009) · BMJ Case Reports · doi:10.1136/bcr.05.2009.1911 · Cited by 11

An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome

Serrano‐Juárez, C. A., Prieto‐Corona, B., Rodríguez-Camacho, M. A., Venegas-Vega, C. A., Yáñez-Téllez, M. G., Silva‐Pereyra, J., Salgado‐Ceballos, H., Arias‐Trejo, N., & Miranda, M. A. D. L. (2020) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04656-4 · Cited by 9

Gene expression analysis of TFII‐I modulated genes in mouse embryonic fibroblasts

Chimge, N., Mungunsukh, O., Ruddle, F. H., & Bayarsaihan, D. (2006) · Journal of Experimental Zoology Part B Molecular and Developmental Evolution · doi:10.1002/jez.b.21134 · Cited by 8

SUMOylation of GTF2IRD1 Regulates Protein Partner Interactions and Ubiquitin-Mediated Degradation

Widagdo, J., Taylor, K. M., Gunning, P. W., Hardeman, E. C., & Palmer, S. J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049283 · Cited by 8

Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion

Domínguez-García, C. M., Serrano‐Juárez, C. A., Rodríguez-Camacho, M. A., Moreno-Villagómez, J., Solís, M. A. A., & Prieto‐Corona, B. (2022) · Applied Neuropsychology Child · doi:10.1080/21622965.2022.2063723 · Cited by 7

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region

Plaja, A., Castells, N., Cueto-González, A. M., Campo, M. D., Vendrell, T., Lloveras, E., Izquierdo, L., Borregán, M., Rodríguez‐Santiago, B., Carrió, A., et al. (2015) · Cytogenetic and Genome Research · doi:10.1159/000439463 · Cited by 7

Deletion of 7q11.23 Genes and Williams Syndrome

Li, D., Järvinen, A. M., Bellugi, U., Mills, D. L., Brown, T. T., Halgren, E., Pober, B. R., & Korenberg, J. R. (2016) · Oxford University Press eBooks · doi:10.1093/med/9780199934522.003.0189 · Cited by 6

Ocular features in Williams-Beuren syndrome: a review of the literature

Nassisi, M., Mainetti, C., Aretti, A., Sperti, A., Nicotra, V., Rinaldi, B., Natacci, F., Bedeschi, M. F., & Viola, F. (2023) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000000990 · Cited by 4

Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

Muramatsu, Y., Tokita, Y., Mizuno, S., & Nakamura, M. (2016) · Brain and Development · doi:10.1016/j.braindev.2016.09.003 · Cited by 4

Rare genomic rearrangement in a boy with Williams–Beuren syndrome associated to XYY syndrome and intriguing behavior

Dutra, R. L., Piazzon, F., Zanardo, É. A., Costa, T. V. M. M., Montenegro, M. M., Novo‐Filho, G. M., Dias, A. T., Nascimento, A. M., Kim, C. A., & Kulikowski, L. D. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37360 · Cited by 4

Cognitive profile in William syndrome: a case study

Gonçalves, Ó. F., Fernández‐Prieto, M., Sampaio, A., Pérez, A., Henriques, M. I. R. S., Lima, M. R., Siebert, M. F., Sousa, N., & Carracedo, Á. (2005) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.1179/096979505799103722

Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish

Torres-Pérez, J. V., Anagianni, S., Sheardown, E., Petrazzini, M. E. M., Fraser, S. E., Butterworth, B. L., Vallortígara, G., & Brennan, C. H. (2025) · Behavioural Brain Research · doi:10.1016/j.bbr.2025.115860 · Cited by 3

HOW EXPERIENCE INTERACTS WITH BIOLOGICAL DEVELOPMENT

Worthman, C. M., & Plotsky, P. M. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511711879.006 · Cited by 2

High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype

Hu, S., Yang, Y., Liu, L., Tan, Z., & Zhao, T. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.6279 · Cited by 3

Gtf2i and Gtf2ird1 mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionPreprint

Kopp, N., McCullough, K. B., Maloney, S. E., & Dougherty, J. D. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/558544 · Cited by 3

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Carlotto, B. S., Deconte, D., Diniz, B. L., Silva, P. R., Zen, P. R. G., & da Silva, A. A. (2023) · Revista Paulista de Pediatria · doi:10.1590/1984-0462/2023/41/2022125 · Cited by 2

Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?

Luo, X., Niu, H., Zhou, F., Chen, X., Pei, Y., Liu, W., & Wei, F. (2024) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-024-06920-2 · Cited by 2

Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome

Vernerova, K., & Šolc, R. (2024) · Research in Autism · doi:10.1016/j.rasd.2024.102479 · Cited by 2

Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren

Honjo, R. S. (2012) · doi:10.11606/t.5.2012.tde-13082012-100426 · Cited by 2

We Are Social – Therefore We Are: The Interplay of Mind, Culture, and Genetics in Williams Syndrome

Zitzer‐Comfort, C., Reilly, J. S., Korenberg, J. R., & Bellugi, U. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511711879.010 · Cited by 1

Is it Williams syndrome?GTF2IRD1implicated in visual–spatial construction andGTF2Iin sociability revealed by high resolution arrays

Dai, L., Bellugi, U., Chen, X. ‐., Pulst‐Korenberg, A. M., Järvinen‐Pasley, A., Tirosh‐Wagner, T., Eis, P. S., Graham, J. M., Mills, D. L., Searcy, Y. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32652 · Cited by 107

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Broadbent, H. J., Farran, E. K., Chin, E., Metcalfe, K., Tassabehji, M., Turnpenny, P. D., Sansbury, F. H., Meaburn, E. L., & Karmiloff‐Smith, A. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-18 · Cited by 44

RESEARCH ARTICLE Is It Williams Syndrome? GTF2IRD1 Implicated in Visual–Spatial Construction and GTF2I in Sociability Revealed by High Resolution Arrays

(2008)

Is it Williams Syndrome? GTF2I Implicated in Sociability and GTF2IRD1 in Visual-Spatial Construction Revealed by High Resolution Arrays

Korenberg, J. R. (2009) · Frontiers in Human Neuroscience · doi:10.3389/conf.neuro.09.2009.07.046

Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

Serrano‐Juárez, C. A., Venegas-Vega, C. A., Yáñez-Téllez, M. G., Rodríguez-Camacho, M. A., Silva‐Pereyra, J., Salgado‐Ceballos, H., & Prieto‐Corona, B. (2018) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617718000711 · Cited by 15